PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554683108
rs1554683108
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
Epidermolysis Bullosa Simplex With Pyloric Atresia 		AA 0.700 GeneticVariation CLINVAR Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations. 23289980 2013
dbSNP: rs1554683108
rs1554683108
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
CUI: C2677349
Disease:
Epidermolysis Bullosa Simplex With Pyloric Atresia 		AA 0.700 GeneticVariation CLINVAR Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. 10652002 2000